Canonical Allele Identifier: CA59810336

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2332830
• ClinVar RCV Id: RCV002930399
• dbSNP Id: rs201742902
• MyVariant Identifiers: chr2:g.167085395T>C (hg19) ; chr2:g.166228885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166228885T>C , CM000664.2:g.166228885T>C	GRCh38
NC_000002.11:g.167085395T>C , CM000664.1:g.167085395T>C	GRCh37
NC_000002.10:g.166793641T>C	NCBI36
NG_012798.1:g.152103A>G , LRG_369:g.152103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4012A>G (SCN9A)	ENSP00000304748.7:p.Met1338Val
ENST00000409435.6:c.4012A>G (SCN9A)	ENSP00000386330.2:p.Met1338Val
ENST00000642356.2:c.4012A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Met1338Val
ENST00000644316.1:c.3856A>G (SCN9A)	ENSP00000493939.1:p.Met1286Val
ENST00000645907.1:c.3979A>G (SCN9A)	ENSP00000495983.1:p.Met1327Val
ENST00000303354.10:c.4012A>G (SCN9A)	ENSP00000304748.7:p.Met1338Val
ENST00000409435.5:c.4012A>G (SCN9A)	ENSP00000386330.1:p.Met1338Val
ENST00000409672.5:c.3979A>G (SCN9A)	ENSP00000386306.1:p.Met1327Val
NM_002977.3:c.3979A>G , LRG_369t1:c.3979A>G (SCN9A)	NP_002968.1:p.Met1327Val
NR_110260.1:n.612-19310T>C (SCN1A-AS1)
XM_005246757.1:c.4012A>G (SCN9A)	XP_005246814.1:p.Met1338Val
XM_011511616.1:c.4012A>G (SCN9A)	XP_011509918.1:p.Met1338Val
XM_011511617.1:c.4012A>G (SCN9A)	XP_011509919.1:p.Met1338Val
XM_011511618.1:c.3979A>G (SCN9A)	XP_011509920.1:p.Met1327Val
XM_011511619.1:c.4012A>G (SCN9A)	XP_011509921.1:p.Met1338Val
NM_001365536.1:c.4012A>G (SCN9A) MANE Select	NP_001352465.1:p.Met1338Val
XM_011511616.3:c.4012A>G (SCN9A)	XP_011509918.1:p.Met1338Val
XM_011511617.2:c.4012A>G (SCN9A)	XP_011509919.1:p.Met1338Val
XM_011511618.2:c.3979A>G (SCN9A)	XP_011509920.1:p.Met1327Val
XM_011511619.2:c.4012A>G (SCN9A)	XP_011509921.1:p.Met1338Val
XM_017004668.1:c.3625A>G (SCN9A)	XP_016860157.1:p.Met1209Val
XM_017004669.1:c.3268A>G (SCN9A)	XP_016860158.1:p.Met1090Val